A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400736



Internal ID22458606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202641441..202652072hg38UCSC Ensembl
chr2:203506164..203516795hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3810632
hg1910632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900994
Supporting Variants
Samples
Known GenesFAM117B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400736
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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